PCSK9 c.1180G>A ;(p.G394S)

Variant ID: 1-55523187-G-A

NM_174936.3(PCSK9):c.1180G>A;(p.G394S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: PCSK9: Gly394Ser
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: PCSK9: 1180G>A; Gly394Ser
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: PCSK9: G394S; rs368257906
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs368257906
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HCHOLA3: G394S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PCSK9: G394S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics
Lange, Leslie A LA; Hu, Youna Y; Zhang, He H; Xue, Chenyi C; Schmidt, Ellen M EM; Tang, Zheng-Zheng ZZ; Bizon, Chris C; Lange, Ethan M EM; Smith, Joshua D JD; Turner, Emily H EH; Jun, Goo G; Kang, Hyun Min HM; Peloso, Gina G; Auer, Paul P; Li, Kuo-Ping KP; Flannick, Jason J; Zhang, Ji J; Fuchsberger, Christian C; Gaulton, Kyle K; Lindgren, Cecilia C; Locke, Adam A; Manning, Alisa A; Sim, Xueling X; Rivas, Manuel A MA; Holmen, Oddgeir L OL; Gottesman, Omri O; Lu, Yingchang Y; Ruderfer, Douglas D; Stahl, Eli A EA; Duan, Qing Q; Li, Yun Y; Durda, Peter P; Jiao, Shuo S; Isaacs, Aaron A; Hofman, Albert A; Bis, Joshua C JC; Correa, Adolfo A; Griswold, Michael E ME; Jakobsdottir, Johanna J; Smith, Albert V AV; Schreiner, Pamela J PJ; Feitosa, Mary F MF; Zhang, Qunyuan Q; Huffman, Jennifer E JE; Crosby, Jacy J; Wassel, Christina L CL; Do, Ron R; Franceschini, Nora N; Martin, Lisa W LW; Robinson, Jennifer G JG; Assimes, Themistocles L TL; Crosslin, David R DR; Rosenthal, Elisabeth A EA; Tsai, Michael M; Rieder, Mark J MJ; Farlow, Deborah N DN; Folsom, Aaron R AR; Lumley, Thomas T; Fox, Ervin R ER; Carlson, Christopher S CS; Peters, Ulrike U; Jackson, Rebecca D RD; van Duijn, Cornelia M CM; Uitterlinden, André G AG; Levy, Daniel D; Rotter, Jerome I JI; Taylor, Herman A HA; Gudnason, Vilmundur V; Siscovick, David S DS; Fornage, Myriam M; Borecki, Ingrid B IB; Hayward, Caroline C; Rudan, Igor I; Chen, Y Eugene YE; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Sætrom, Pål P; Hveem, Kristian K; Boehnke, Michael M; Groop, Leif L; McCarthy, Mark M; Meitinger, Thomas T; Ballantyne, Christie M CM; Gabriel, Stacey B SB; O'Donnell, Christopher J CJ; Post, Wendy S WS; North, Kari E KE; Reiner, Alexander P AP; Boerwinkle, Eric E; Psaty, Bruce M BM; Altshuler, David D; Kathiresan, Sekar S; Lin, Dan-Yu DY; Jarvik, Gail P GP; Cupples, L Adrienne LA; Kooperberg, Charles C; Wilson, James G JG; Nickerson, Deborah A DA; Abecasis, Goncalo R GR; Rich, Stephen S SS; Tracy, Russell P RP; Willer, Cristen J CJ; ,
Publication Date: 2014-02-06

Variant appearance in text: PCSK9: 1180G>A; Gly394Ser
PubMed Link: 24507775
Variant Present in the following documents:
  • Main text
View BVdb publication page